Results 71 to 80 of about 2,517,817 (182)

Variants in WFS1 and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity [PDF]

Clinical Cancer Research, 2017
Abstract Purpose: Cisplatin is one of the most commonly used chemotherapy drugs worldwide and one of the most ototoxic. We sought to identify genetic variants that modulate cisplatin-associated ototoxicity (CAO). Experimental Design: We performed a genome-wide association study (GWAS) of CAO using quantitative ...
Wheeler, Heather E., Gamazon, Eric R., Frisina, Robert D., Perez-Cervantes, Carlos, El Charif, Omar, Mapes, Brandon, Fossa, Sophie D., Feldman, Darren R., Hamilton, Robert J., Vaughn, David J., Beard, Clair J., Fung, Chunkit, Kollmannsberger, Christian, Kim, Jeri, Mushiroda, Taisei, Kubo, Michiaki, Ardeshir-Rouhani-Fard, Shirin, Einhorn, Lawrence, Cox, Nancy J., Dolan, M. Eileen, Travis, Lois B.   +20 more
openaire   +3 more sources

Hypothalamic gene expression profile indicates a reduction in G protein signaling in theWfs1mutant mice

, 2011
The Wfs1 gene codes for a protein with unknown function, but deficiency in this protein results in a range of neuropsychiatric and neuroendocrine syndromes.
Mario Plaas, Leonard C. Schalkwyk, Klari Noormets, Soomets, U., Ursel Soomets, Tillmann, V., Schalkwyk, L.C., Plaas, Mario, Anton Terasmaa, Vasar, Eero, Schalkwyk, Leonard C., Plaas, M., Tillmann, Vallo, Terasmaa, Anton, Cathy Fernandes, Vasar, E., Soomets, Ursel, Kõks, S., Fernandes, Cathy; id_orcid, Fernandes, Cathy, Kõks, Sulev, Schalkwyk, Leonard C, Sulev Kõks, Fernandes, C., Noormets, Klari, Terasmaa, A., Vallo Tillmann, Noormets, K., Eero Vasar   +28 more
core   +1 more source

Recurrent de novo WFS1 pathogenic variants in Chinese sporadic patients with nonsyndromic sensorineural hearing loss

Molecular Genetics & Genomic Medicine, 2020
Background Hereditary hearing loss (HL) is heterogeneous in terms of their phenotypic features, modes of inheritance, and causative gene mutations. The contribution of genetic variants to sporadic HL remains largely expanding. Either recessive or de novo
Jing Guan, Hongyang Wang, Lan Lan, Yusen Wu, Guohui Chen, Cui Zhao, Dayong Wang, Qiuju Wang   +7 more
doaj   +1 more source

Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review

Biomedicines, 2023
Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype.
Mirko Aldè, Giovanna Cantarella, Diego Zanetti, Lorenzo Pignataro, Ignazio La Mantia, Luigi Maiolino, Salvatore Ferlito, Paola Di Mauro, Salvatore Cocuzza, Jérôme René Lechien, Giannicola Iannella, Francois Simon, Antonino Maniaci   +12 more
doaj   +1 more source

BIOL324: Editing the Drosophila Genome using CRISPR- Cas9 to Knockout the WFS1 gene

, 2020
CRISPR-Cas9 is a genome editing tool that allows scientists to knockdown a particular gene and add in specific sequences. In humans, the gene WFS1 plays a role in responding to oxidative stress.
Pack, Abagail, Hayek, Cecily, Willis, Stephanie, Cervantes, Brianna   +3 more
core   +1 more source

Novel WFS1 variants are associated with different diabetes phenotypes

Frontiers in Genetics
BackgroundThe WFS1 gene encodes the protein wolframin, which is crucial for maintaining endoplasmic reticulum homeostasis. Variants in this gene are predominantly associated with Wolfram syndrome and have been implicated in other disorders such as ...
Lei Wu, Juan Zhang, Danjie Li, Zhongyun Zhang, Qicheng Ni, Qicheng Ni, Rulai Han, Rulai Han, Lei Ye, Lei Ye, Yifei Zhang, Yifei Zhang, Jie Hong, Jie Hong, Weiqing Wang, Weiqing Wang, Guang Ning, Guang Ning, Weiqiong Gu, Weiqiong Gu   +19 more
doaj   +1 more source

miRNA Sensor HuR Compartmentalizes Ago2‐Uncoupled miRNAs to Lipid Droplets to Buffer miRNA Activity in Mammalian Cells

The FASEB Journal, Volume 40, Issue 11, 15 June 2026.
This study revealed a dose‐dependent miRNA buffering mechanism involving extracellular export and storage of miRNA on lipid droplets. The protein HuR facilitates miRNA buffering by dissociating miRNAs from Ago2 and promoting miRNA accumulation on lipid droplets or its extracellular export, depending on cellular requirements.
Sreemoyee Chakraborty, Diptankar Bandyopadhyay, Kamalika Mukherjee, Suvendra N. Bhattacharyya   +3 more
wiley   +1 more source

Wolfram syndrome 1 gene negatively regulates ER stress signaling in rodent and human cells [PDF]

, 2010
Wolfram syndrome is an autosomal-recessive disorder characterized by insulin-dependent diabetes mellitus, caused by nonautoimmune loss of beta cells, and neurological dysfunctions.
Lipson, Kathryn L., Ishihara, Hisamitsu, Fonseca, Sonya G., Ishigaki, Shinsuke, Oka, Yoshitomo, Oslowski, Christine M., Lu, Simin, Hayashi, Emiko, Permutt, M. Alan, Urano, Fumihiko, Ghosh, Rajarshi   +10 more
core   +1 more source

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis. [PDF]

PLoS ONE, 2018
A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome.
Masafumi Kobayashi, Maiko Miyagawa, Shin-Ya Nishio, Hideaki Moteki, Taro Fujikawa, Kenji Ohyama, Hirofumi Sakaguchi, Ikuyo Miyanohara, Akiko Sugaya, Yasushi Naito, Shin-Ya Morita, Yukihiko Kanda, Masahiro Takahashi, Kotaro Ishikawa, Yuki Nagano, Tetsuya Tono, Chie Oshikawa, Chiharu Kihara, Haruo Takahashi, Yoshihiro Noguchi, Shin-Ichi Usami   +20 more
doaj   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR ‐Gene Family

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1286-1305, June 2026.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +1 more source